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TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [ Homo sapiens (human) ]

Gene ID: 93492, updated on 5-Mar-2024

Summary

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Official Symbol
TPTE2provided by HGNC
Official Full Name
transmembrane phosphoinositide 3-phosphatase and tensin homolog 2provided by HGNC
Primary source
HGNC:HGNC:17299
See related
Ensembl:ENSG00000132958 MIM:606791; AllianceGenome:HGNC:17299
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TPIP
Summary
TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
Expression
Restricted expression toward testis (RPKM 4.7) See more
Orthologs
all
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Genomic context

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Location:
13q12.11
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (19422877..19561574, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (18618970..18757628, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (19997017..20135714, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene poly(ADP-ribose) polymerase family member 4 pseudogene 2 Neighboring gene CCNQ pseudogene 3 Neighboring gene solute carrier family 25 member 15 pseudogene 2 Neighboring gene uncharacterized LOC124903271 Neighboring gene CYCS pseudogene 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5137 Neighboring gene mitochondrial ribosomal protein S31 pseudogene 2 Neighboring gene TPTE2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7404 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:20161162-20161342 Neighboring gene GOLM2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7405 Neighboring gene estrogen-related receptor alpha pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:20173929-20174918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20219053-20219554 Neighboring gene M-phase phosphoprotein 8 Neighboring gene paraspeckle component 1 Neighboring gene RNA, 7SL, cytoplasmic 166, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Downregulation of TPTE2P1 Inhibits Migration and Invasion of Gallbladder Cancer Cells. Lv W, et al. Chem Biol Drug Des, 2015 Oct. PMID 25676706
  2. A human phospholipid phosphatase activated by a transmembrane control module. Halaszovich CR, et al. J Lipid Res, 2012 Nov. PMID 22896666, Free PMC Article
  3. Cell cycle arrest and apoptosis by expression of a novel TPIP (TPIP-C2) cDNA encoding a C2-domain in HEK-293 cells. Mishra RR, et al. Mol Biol Rep, 2012 Jul. PMID 22311048
  4. A novel human TPIP splice-variant (TPIP-C2) mRNA, expressed in human and mouse tissues, strongly inhibits cell growth in HeLa cells. Mishra RR, et al. PLoS One, 2011. PMID 22164291, Free PMC Article
  5. The role of PTEN in the progression and survival of prostate cancer. Deocampo ND, et al. Minerva Endocrinol, 2003 Jun. PMID 12717346

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The role of TPTE2 in gallbladder cancer cells
    Title: Downregulation of TPTE2P1 Inhibits Migration and Invasion of Gallbladder Cancer Cells.
  2. TPTE2 was originally reported to be a phosphoinositide 3'-phosphatase, like the tumor suppressor PTEN. Later on, other homologous phosphatases, such as Ci-VSP and Dr-VSP, have been described. These proteins are 5'-phosphatases. More recently, using a chimeric construct, we have shown that the catalytic domain of TPTE2 behaves as a 5'-phosphatase as well.
    Title: A human phospholipid phosphatase activated by a transmembrane control module.
  3. findings suggest that C2-domain of TPIP-C2 may act as a dominant negative effector, which may bind to and arrest the cell proliferation signalling complex
    Title: Cell cycle arrest and apoptosis by expression of a novel TPIP (TPIP-C2) cDNA encoding a C2-domain in HEK-293 cells.
  4. the TPIP splice-variant (TPIP-C2) mRNA is expressed in human and mouse tissues and strongly inhibits cell growth in HeLa cells
    Title: A novel human TPIP splice-variant (TPIP-C2) mRNA, expressed in human and mouse tissues, strongly inhibits cell growth in HeLa cells.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC149231

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
  
enables protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2
Names
PTEN-like inositol lipid phosphatase
TPIP lipid phosphatase
TPTE and PTEN homologous inositol lipid phosphatase
lipid phosphatase TPIP
transmembrane phosphoinositide 3-phosphatase and tensin 2-like protein
NP_001135440.1
NP_001258779.1
NP_001382907.1
NP_570141.3
NP_954863.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001141968.2 → NP_001135440.1  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform delta

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) includes an additional exon in the 5' UTR and lacks three consecutive in-frame exons in the coding region, compared to variant 3. The resulting isoform (delta) has the same N- and C-termini but lacks an internal segment compared to isoform gamma.
    Source sequence(s)
    AL590076, AY219890, BC128146, BG200515
    Consensus CDS
    CCDS45013.1
    UniProtKB/TrEMBL
    A0A286KIS6
    Related
    ENSP00000382974.2, ENST00000400103.7
    Conserved Domains (3) summary
    smart00404
    Location:177 → 235
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    COG2453
    Location:158 → 283
    CDC14; Protein-tyrosine phosphatase [Signal transduction mechanisms]
    pfam10409
    Location:280 → 410
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein

  2. NM_001271850.2 → NP_001258779.1  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform C2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks multiple 5' exons but has an alternate segment at the 5' end compared to variant 3. These differences cause translation initiation at a downstream AUG and the resulting isoform (C2) has a much shorter N-terminus, compared to isoform gamma.
    Source sequence(s)
    AL590076, BC128146, BG200515, FJ969729
    UniProtKB/Swiss-Prot
    Q6XPS3
    Conserved Domains (1) summary
    pfam10409
    Location:62 → 192
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein

  3. NM_001395978.1 → NP_001382907.1  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform gamma

    Status: VALIDATED

    Source sequence(s)
    AL359457, AL590076
    Consensus CDS
    CCDS45014.1
    UniProtKB/Swiss-Prot
    A1A4X0, A1A4X1, A8MX64, B1AQ16, B4DWZ2, Q5VUH2, Q6XPS3, Q8WWL4, Q8WWL5
    UniProtKB/TrEMBL
    A0A286KIS6
    Related
    ENSP00000513136.1, ENST00000697147.1
    Conserved Domains (2) summary
    cd14510
    Location:206 → 382
    PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
    pfam10409
    Location:391 → 521
    PTEN_C2; C2 domain of PTEN tumor-suppressor protein

  4. NM_130785.4 → NP_570141.3  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform alpha

    See identical proteins and their annotated locations for NP_570141.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks three alternate in-frame exons, compared to variant 3. The resulting isoform (alpha) has the same N- and C- termini but lacks two internal segments compared to isoform gamma.
    Source sequence(s)
    AJ421032, AL359457, AL590076, BG200515
    Consensus CDS
    CCDS9285.1
    UniProtKB/TrEMBL
    A0A286KIS6
    Related
    ENSP00000375098.2, ENST00000390680.2
    Conserved Domains (3) summary
    smart00404
    Location:211 → 269
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    COG2453
    Location:192 → 317
    CDC14; Protein-tyrosine phosphatase [Signal transduction mechanisms]
    pfam10409
    Location:314 → 444
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein

  5. NM_199254.3 → NP_954863.2  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform gamma

    See identical proteins and their annotated locations for NP_954863.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcripts and encodes the longest isoform (gamma).
    Source sequence(s)
    AL359457, AL590076, AY219890, BG200515
    Consensus CDS
    CCDS45014.1
    UniProtKB/Swiss-Prot
    A1A4X0, A1A4X1, A8MX64, B1AQ16, B4DWZ2, Q5VUH2, Q6XPS3, Q8WWL4, Q8WWL5
    UniProtKB/TrEMBL
    A0A286KIS6
    Related
    ENSP00000513024.1, ENST00000696988.1
    Conserved Domains (2) summary
    cd14510
    Location:206 → 382
    PTP_VSP_TPTE; protein tyrosine phosphatase-like catalytic domain of voltage-sensitive phosphatase/transmembrane phosphatase with tensin homology
    pfam10409
    Location:391 → 521
    PTEN_C2; C2 domain of PTEN tumor-suppressor protein

RNA

  1. NR_073485.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains three alternate 5' exons and has an additonal exon in the 3' region, which includes a stop codon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK301741, AL590076, BG200515, BG207812
    Related
    ENST00000696859.1

  2. NR_073486.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7, also known as beta) lacks several internal exons and has an alternate exon in the 3' region, which includes a stop codon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ421032, AJ421033, AL590076, BC128146, BG200515
    Related
    ENST00000462409.5

  3. NR_073487.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks several internal exons, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ421032, AK301741, AL590076, BC128147, BG200515

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    19422877..19561574 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    18618970..18757628 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199255.1: Suppressed sequence

    Description
    NM_199255.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6XPS3.2 GenPept UniProtKB/Swiss-Prot:Q6XPS3

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